Works matching AU Gasparini, Paolo


Results: 158
    1
    2

    Mutations in PLS1, encoding fimbrin, cause autosomal dominant nonsyndromic hearing loss.

    Published in:
    Human Mutation, 2019, v. 40, n. 12, p. 2286, doi. 10.1002/humu.23891
    By:
    • Morgan, Anna;
    • Koboldt, Daniel C.;
    • Barrie, Elizabeth S.;
    • Crist, Erin R.;
    • García García, Gema;
    • Mezzavilla, Massimo;
    • Faletra, Flavio;
    • Mihalic Mosher, Theresa;
    • Wilson, Richard K.;
    • Blanchet, Catherine;
    • Manickam, Kandamurugu;
    • Roux, Anne‐Francoise;
    • Gasparini, Paolo;
    • Dell'Orco, Daniele;
    • Girotto, Giorgia
    Publication type:
    Article
    3
    4

    DHPLC analysis of the MECP2 gene in Italian Rett patients.

    Published in:
    Human Mutation, 2001, v. 18, n. 2, p. 132, doi. 10.1002/humu.1162
    By:
    • Nicolao, Piero;
    • Carella, Massimo;
    • Giometto, Bruno;
    • Tavolato, Bruno;
    • Cattin, Riccardo;
    • Giovannucci-Uzielli, Maria Luisa;
    • Vacca, Marcella;
    • Regione, Floriana Della;
    • Piva, Stefania;
    • Bortoluzzi, Stefania;
    • Gasparini, Paolo
    Publication type:
    Article
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    First all-in-one diagnostic tool for DNA intelligence: genome-wide inference of biogeographic ancestry, appearance, relatedness, and sex with the Identitas v1 Forensic Chip.

    Published in:
    International Journal of Legal Medicine, 2013, v. 127, n. 3, p. 559, doi. 10.1007/s00414-012-0788-1
    By:
    • Keating, Brendan;
    • Bansal, Aruna;
    • Walsh, Susan;
    • Millman, Jonathan;
    • Newman, Jonathan;
    • Kidd, Kenneth;
    • Budowle, Bruce;
    • Eisenberg, Arthur;
    • Donfack, Joseph;
    • Gasparini, Paolo;
    • Budimlija, Zoran;
    • Henders, Anjali;
    • Chandrupatla, Hareesh;
    • Duffy, David;
    • Gordon, Scott;
    • Hysi, Pirro;
    • Liu, Fan;
    • Medland, Sarah;
    • Rubin, Laurence;
    • Martin, Nicholas
    Publication type:
    Article
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    Genetics of Cystic Fibrosis.

    Published in:
    Digestive Diseases, 1991, v. 9, n. 3, p. 179, doi. 10.1159/000171303
    By:
    • Gasparini, Paolo
    Publication type:
    Article
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    The Genetic Diagnosis of Ultrarare DEEs: An Ongoing Challenge.

    Published in:
    Genes, 2022, v. 13, n. 3, p. 500, doi. 10.3390/genes13030500
    By:
    • Musante, Luciana;
    • Costa, Paola;
    • Zanus, Caterina;
    • Faletra, Flavio;
    • Murru, Flora M.;
    • Bianco, Anna M.;
    • La Bianca, Martina;
    • Ragusa, Giulia;
    • Athanasakis, Emmanouil;
    • d'Adamo, Adamo P.;
    • Carrozzi, Marco;
    • Gasparini, Paolo
    Publication type:
    Article
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    The Role of Knockout Olfactory Receptor Genes in Odor Discrimination.

    Published in:
    Genes, 2021, v. 12, n. 5, p. 631, doi. 10.3390/genes12050631
    By:
    • Concas, Maria Pina;
    • Cocca, Massimiliano;
    • Francescatto, Margherita;
    • Battistuzzi, Thomas;
    • Spedicati, Beatrice;
    • Feresin, Agnese;
    • Morgan, Anna;
    • Gasparini, Paolo;
    • Girotto, Giorgia;
    • Crisponi, Laura
    Publication type:
    Article
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    The 2q23.1 microdeletion syndrome: clinical and behavioural phenotype.

    Published in:
    2010
    By:
    • van Bon, Bregje W M;
    • Koolen, David A;
    • Brueton, Louise;
    • McMullan, Dominic;
    • Lichtenbelt, Klaske D;
    • Adès, Lesley C;
    • Peters, Gregory;
    • Gibson, Kate;
    • Moloney, Susan;
    • Novara, Francesca;
    • Pramparo, Tiziano;
    • Bernardina, Bernardo Dalla;
    • Zoccante, Leonardo;
    • Balottin, Umberto;
    • Piazza, Fausta;
    • Pecile, Vanna;
    • Gasparini, Paolo;
    • Guerci, Veronica;
    • Kets, Marleen;
    • Pfundt, Rolph
    Publication type:
    Correction Notice
    17

    The 2q23.1 microdeletion syndrome: clinical and behavioural phenotype.

    Published in:
    European Journal of Human Genetics, 2010, v. 18, n. 2, p. 163, doi. 10.1038/ejhg.2009.152
    By:
    • van Bon, Bregje W. M.;
    • Koolen, David A.;
    • Brueton, Louise;
    • McMullan, Dominic;
    • Lichtenbelt, Klaske D.;
    • Adès, Lesley C.;
    • Peters, Gregory;
    • Gibson, Kate;
    • Novara, Francesca;
    • Pramparo, Tiziano;
    • Bernardina, Bernardo Dalla;
    • Zoccante, Leonardo;
    • Balottin, Umberto;
    • Piazza, Fausta;
    • Pecile, Vanna;
    • Gasparini, Paolo;
    • Guerci, Veronica;
    • Kets, Marleen;
    • Pfundt, Rolph;
    • de Brouwer, Arjan P.
    Publication type:
    Article
    18

    Corrigendum to: The 2q23.1 microdeletion syndrome: clinical and behavioural phenotype.

    Published in:
    2010
    By:
    • van Bon, Bregje W. M.;
    • Koolen, David A.;
    • Brueton, Louise;
    • McMullan, Dominic;
    • Lichtenbelt, Klaske D.;
    • Adès, Lesley C.;
    • Peters, Gregory;
    • Gibson, Kate;
    • Novara, Francesca;
    • Pramparo, Tiziano;
    • Bernardina, Bernardo Dalla;
    • Zoccante, Leonardo;
    • Balottin, Umberto;
    • Piazza, Fausta;
    • Pecile, Vanna;
    • Gasparini, Paolo;
    • Guerci, Veronica;
    • Kets, Marleen;
    • Pfundt, Rolph;
    • de Brouwer, Arjan P.
    Publication type:
    Correction Notice
    19
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    Mitochondrial DNA mutations in patients with postlingual, nonsyndromic hearing impairment.

    Published in:
    European Journal of Human Genetics, 2005, v. 13, n. 1, p. 26, doi. 10.1038/sj.ejhg.5201250
    By:
    • Jacobs, Howard T.;
    • Hutchin, Timothy P.;
    • Timo Käppi;
    • Gillies, Greta;
    • Minkkinen, Kia;
    • Walker, John;
    • Thompson, Karen;
    • Rovio, Anja T.;
    • Carella, Massimo;
    • Melchionda, Salvatore;
    • Zelante, Leopoldo;
    • Gasparini, Paolo;
    • Pyykkö, Ilmari;
    • Shah, Zahid H.;
    • Zeviani, Massimo;
    • Mueller, Robert F.
    Publication type:
    Article
    21

    A second locus mapping to 2q35-36 for familial pseudohyperkalaemia.

    Published in:
    European Journal of Human Genetics, 2004, v. 12, n. 12, p. 1073, doi. 10.1038/sj.ejhg.5201280
    By:
    • Carella, Massimo;
    • d'Adamo, Adamo Pio;
    • Grootenboer-Mignot, Sabine;
    • Vantyghem, Marie C.;
    • Esposito, Laura;
    • D'Eustacchio, Angela;
    • Ficarella, Romina;
    • Stewart, Gordon W;
    • Gasparini, Paolo;
    • Delaunay, Jean;
    • Iolascon, Achille
    Publication type:
    Article
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    Juvenile hemochromatosis locus maps to chromosome 1q in a French Canadian population.

    Published in:
    European Journal of Human Genetics, 2003, v. 11, n. 8, p. 585, doi. 10.1038/sj.ejhg.5201009
    By:
    • Rivard, Sylvain R;
    • Lanzara, Carmela;
    • Grimard, Doria;
    • Carella, Massimo;
    • Simard, Hervey;
    • Ficarella, Romina;
    • Simard, Raynald;
    • D'Adamo, Adamo Pio;
    • Férec, Claude;
    • Camaschella, Clara;
    • Mura, Cathrine;
    • Roetto, Antonella;
    • De Braekeleer, Marc;
    • Bechner, Lucien;
    • Gasparini, Paolo
    Publication type:
    Article
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    Genetic analysis in Italian families with inflammatory bowel disease supports linkage to the IBD1 locus – A GISC study.

    Published in:
    European Journal of Human Genetics, 1999, v. 7, n. 5, p. 567, doi. 10.1038/sj.ejhg.5200328
    By:
    • Annese, Vito;
    • Latiano, Anna;
    • Bovio, Paola;
    • Forabosco, Paola;
    • Piepoli, Ada;
    • Lombardi, Giovanni;
    • Andreoli, Arnaldo;
    • Astegiano, Marco;
    • Gionchetti, Paolo;
    • Riegler, Gabriele;
    • Sturniolo, Giacomo C;
    • Clementi, Maurizio;
    • Rappaport, Eric;
    • Fortina, Paolo;
    • Devoto, Marcella;
    • Gasparini, Paolo;
    • Andriulli, Angelo
    Publication type:
    Article
    27

    Genetic homogeneity of lysinuric protein intolerance.

    Published in:
    European Journal of Human Genetics, 1998, v. 6, n. 6, p. 612, doi. 10.1038/sj.ejhg.5200236
    By:
    • Lauteala, Tuija;
    • Mykkänen, Juha;
    • Sperandeo, Maria Pia;
    • Gasparini, Paolo;
    • Savontaus, Marja-Liisa;
    • Simell, Olli;
    • Andria, Generoso;
    • Sebastio, Gianfranco;
    • Aula, Pentti
    Publication type:
    Article
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    Generation of a transcription map of a 1 Mbase region containing the HFE gene (6p22).

    Published in:
    European Journal of Human Genetics, 1998, v. 6, n. 2, p. 105, doi. 10.1038/sj.ejhg.5200162
    By:
    • Totaro, Angela;
    • Roetto, Antonella;
    • Rommens, Johanna M;
    • Grifa, Anna;
    • Carella, Massimo;
    • d'Agruma, Leonardo;
    • Valentino, Maria Assunta;
    • D'Ambrosio, Lucrezia;
    • Cicilano, Matteo;
    • Camaschella, Clara;
    • Franco, Brunella;
    • Gasparini, Paolo
    Publication type:
    Article
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    Population genetic differentiation of height and body mass index across Europe.

    Published in:
    Nature Genetics, 2015, v. 47, n. 11, p. 1357, doi. 10.1038/ng.3401
    By:
    • Mezzavilla, Massimo;
    • Esko, Tonu;
    • Powell, Joseph E;
    • Kahali, Bratati;
    • Pers, Tune H;
    • Vedantam, Sailaja;
    • Gasparini, Paolo;
    • Werge, Thomas M;
    • Boomsma, Dorret I;
    • Chasman, Daniel I;
    • de Geus, Eco J C;
    • Hirschhorn, Joel N;
    • Hottenga, Jouke Jan;
    • Ingelsson, Erik;
    • Loos, Ruth J F;
    • North, Kari E;
    • Goddard, Michael E;
    • Yang, Jian;
    • Visscher, Peter M;
    • Robinson, Matthew R
    Publication type:
    Article
    32

    Genome sequencing elucidates Sardinian genetic architecture and augments association analyses for lipid and blood inflammatory markers.

    Published in:
    Nature Genetics, 2015, v. 47, n. 11, p. 1272, doi. 10.1038/ng.3368
    By:
    • Sidore, Carlo;
    • Busonero, Fabio;
    • Maschio, Andrea;
    • Porcu, Eleonora;
    • Mulas, Antonella;
    • Pistis, Giorgio;
    • Berutti, Riccardo;
    • Gasparini, Paolo;
    • Soranzo, Nicole;
    • Angius, Andrea;
    • Cucca, Francesco;
    • Naitza, Silvia;
    • Zoledziewska, Magdalena;
    • Steri, Maristella;
    • Danjou, Fabrice;
    • Pitzalis, Maristella;
    • Sanna, Serena;
    • Timpson, Nicholas J;
    • Toniolo, Daniela;
    • Malerba, Giovanni
    Publication type:
    Article
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    MPV17 encodes an inner mitochondrial membrane protein and is mutated in infantile hepatic mitochondrial DNA depletion.

    Published in:
    Nature Genetics, 2006, v. 38, n. 5, p. 570, doi. 10.1038/ng1765
    By:
    • Spinazzola, Antonella;
    • Viscomi, Carlo;
    • Fernandez-Vizarra, Erika;
    • Carrara, Franco;
    • D'Adamo, Pio;
    • Calvo, Sarah;
    • Marsano, René Massimiliano;
    • Donnini, Claudia;
    • Weiher, Hans;
    • Strisciuglio, Pietro;
    • Parini, Rossella;
    • Sarzi, Emmanuelle;
    • Chan, Alicia;
    • DiMauro, Salvatore;
    • Rötig, Agnes;
    • Gasparini, Paolo;
    • Ferrero, Iliana;
    • Mootha, Vamsi K.;
    • Tiranti, Valeria;
    • Zeviani, Massimo
    Publication type:
    Article
    35

    The putative forkhead transcription factor FOXL2 is mutated in blepharophimosis/ptosis/epicanthus inversus syndrome.

    Published in:
    Nature Genetics, 2001, v. 27, n. 2, p. 159, doi. 10.1038/84781
    By:
    • Crisponi, Laura;
    • Deiana, Manila;
    • Loi, Angela;
    • Chiappe, Francesca;
    • Uda, Manuela;
    • Amati, Patrizia;
    • Bisceglia, Luigi;
    • Zelante, Leopoldo;
    • Nagaraja, Ramaiah;
    • Porcu, Susanna;
    • Serafina Ristaldi, M.;
    • Marzella, Rosalia;
    • Rocchi, Mariano;
    • Nicolino, Marc;
    • Lienhardt-Roussie, Anne;
    • Nivelon, Annie;
    • Verloes, Alain;
    • Schlessinger, David;
    • Gasparini, Paolo
    Publication type:
    Article
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    Mutations in GJB6 cause nonsyndromic autosomal dominant deafness at DFNA3 locus.

    Published in:
    Nature Genetics, 1999, v. 23, n. 1, p. 16, doi. 10.1038/12612
    By:
    • Grifa, Anna;
    • Wagner, Carsten A.;
    • D'Ambrosio, Lucrezia;
    • Melchionda, Salvatore;
    • Bernardi, Francesco;
    • Lopez-Bigas, Nuria;
    • Rabionet, Raquel;
    • Arbones, Mariona;
    • Monica, Matteo Della;
    • Estivill, Xavier;
    • Zelante, Leopoldo;
    • Lang, Florian;
    • Gasparini, Paolo
    Publication type:
    Article
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    Autosomal recessive progressive myoclonus epilepsy with ataxia and mental retardation.

    Published in:
    Journal of Neurology, 2005, v. 252, n. 8, p. 897, doi. 10.1007/s00415-005-0766-3
    By:
    • Coppola, Giovanni;
    • Criscuolo, Chiara;
    • de Michele, Giuseppe;
    • Striano, Salvatore;
    • Barbieri, Fabrizio;
    • Striano, Pasquale;
    • Perretti, Anna;
    • Santoro, Lucio;
    • Morra, Vincenzo Brescia;
    • Saccà, Francesco;
    • Scarano, Valentina;
    • D'Adamo, Adamo P.;
    • Banfi, Sandro;
    • Gasparini, Paolo;
    • Santorelli, Filippo M.;
    • Lehesjoki, Anna E.;
    • Filla, Alessandro
    Publication type:
    Article
    40

    Common variants in CLDN14 are associated with differential excretion of magnesium over calcium in urine.

    Published in:
    Pflügers Archiv: European Journal of Physiology, 2017, v. 469, n. 1, p. 91, doi. 10.1007/s00424-016-1913-7
    By:
    • Corre, Tanguy;
    • Olinger, Eric;
    • Harris, Sarah;
    • Traglia, Michela;
    • Ulivi, Sheila;
    • Lenarduzzi, Stefania;
    • Belge, Hendrica;
    • Youhanna, Sonia;
    • Tokonami, Natsuko;
    • Bonny, Olivier;
    • Houillier, Pascal;
    • Polasek, Ozren;
    • Deary, Ian;
    • Starr, John;
    • Toniolo, Daniela;
    • Gasparini, Paolo;
    • Vollenweider, Peter;
    • Hayward, Caroline;
    • Bochud, Murielle;
    • Devuyst, Olivier
    Publication type:
    Article
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    Probabilistic GIS-based method for delineation of urban flooding risk hotspots.

    Published in:
    Natural Hazards, 2014, v. 73, n. 2, p. 975, doi. 10.1007/s11069-014-1119-2
    By:
    • Jalayer, Fatemeh;
    • Risi, Raffaele;
    • Paola, Francesco;
    • Giugni, Maurizio;
    • Manfredi, Gaetano;
    • Gasparini, Paolo;
    • Topa, Maria;
    • Yonas, Nebyou;
    • Yeshitela, Kumelachew;
    • Nebebe, Alemu;
    • Cavan, Gina;
    • Lindley, Sarah;
    • Printz, Andreas;
    • Renner, Florian
    Publication type:
    Article
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    Genome‐wide association studies of response and side effects to the BNT162b2 vaccine in Italian healthcare workers: Increased antibody levels and side effects in carriers of the HLA‐A*03:01 allele.

    Published in:
    HLA: Immune Response Genetics, 2023, v. 102, n. 6, p. 707, doi. 10.1111/tan.15157
    By:
    • Magri, Chiara;
    • Marchina, Eleonora;
    • Sansone, Emanuele;
    • D'Adamo, Adamo Pio;
    • Cappellani, Stefania;
    • Bonfanti, Carlo;
    • Terlenghi, Luigina;
    • Biasiotto, Giorgio;
    • Zanella, Isabella;
    • Sala, Emma;
    • Caruso, Arnaldo;
    • Lombardo, Massimo;
    • Gasparini, Paolo;
    • De Palma, Giuseppe;
    • Gennarelli, Massimo
    Publication type:
    Article
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    Association Analysis of Bitter Receptor Genes in Five Isolated Populations Identifies a Significant Correlation between <i>TAS2R43</i> Variants and Coffee Liking.

    Published in:
    PLoS ONE, 2014, v. 9, n. 3, p. 1, doi. 10.1371/journal.pone.0092065
    By:
    • Pirastu, Nicola;
    • Kooyman, Maarten;
    • Traglia, Michela;
    • Robino, Antonietta;
    • Willems, Sara M.;
    • Pistis, Giorgio;
    • d’Adamo, Pio;
    • Amin, Najaf;
    • d’Eustacchio, Angela;
    • Navarini, Luciano;
    • Sala, Cinzia;
    • Karssen, Lennart C.;
    • van Duijn, Cornelia;
    • Toniolo, Daniela;
    • Gasparini, Paolo
    Publication type:
    Article